Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30015 | 90268;90269;90270 | chr2:178552857;178552856;178552855 | chr2:179417584;179417583;179417582 |
| N2AB | 28374 | 85345;85346;85347 | chr2:178552857;178552856;178552855 | chr2:179417584;179417583;179417582 |
| N2A | 27447 | 82564;82565;82566 | chr2:178552857;178552856;178552855 | chr2:179417584;179417583;179417582 |
| N2B | 20950 | 63073;63074;63075 | chr2:178552857;178552856;178552855 | chr2:179417584;179417583;179417582 |
| Novex-1 | 21075 | 63448;63449;63450 | chr2:178552857;178552856;178552855 | chr2:179417584;179417583;179417582 |
| Novex-2 | 21142 | 63649;63650;63651 | chr2:178552857;178552856;178552855 | chr2:179417584;179417583;179417582 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs1289787170  |
-0.799 | 0.001 | N | 0.336 | 0.086 | 0.40218521252 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.13E-05 | 0 |
| I/T | rs1289787170 |
-0.799 | 0.001 | N | 0.336 | 0.086 | 0.40218521252 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/T | rs1289787170 |
-0.799 | 0.001 | N | 0.336 | 0.086 | 0.40218521252 | gnomAD-4.0.0 | 9.91505E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.27138E-05 | 0 | 1.60097E-05 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1709 | likely_benign | 0.1474 | benign | -1.142 | Destabilizing | 0.016 | N | 0.483 | neutral | None | None | None | None | I |
| I/C | 0.5519 | ambiguous | 0.524 | ambiguous | -0.915 | Destabilizing | 0.356 | N | 0.553 | neutral | None | None | None | None | I |
| I/D | 0.6487 | likely_pathogenic | 0.6265 | pathogenic | -0.252 | Destabilizing | 0.356 | N | 0.568 | neutral | None | None | None | None | I |
| I/E | 0.4812 | ambiguous | 0.4656 | ambiguous | -0.303 | Destabilizing | 0.136 | N | 0.561 | neutral | None | None | None | None | I |
| I/F | 0.1542 | likely_benign | 0.1311 | benign | -0.894 | Destabilizing | 0.029 | N | 0.501 | neutral | N | 0.475920553 | None | None | I |
| I/G | 0.5212 | ambiguous | 0.4955 | ambiguous | -1.379 | Destabilizing | 0.136 | N | 0.564 | neutral | None | None | None | None | I |
| I/H | 0.4639 | ambiguous | 0.4247 | ambiguous | -0.477 | Destabilizing | 0.864 | D | 0.583 | neutral | None | None | None | None | I |
| I/K | 0.2694 | likely_benign | 0.2597 | benign | -0.574 | Destabilizing | 0.072 | N | 0.562 | neutral | None | None | None | None | I |
| I/L | 0.0991 | likely_benign | 0.0921 | benign | -0.61 | Destabilizing | None | N | 0.2 | neutral | N | 0.495156438 | None | None | I |
| I/M | 0.091 | likely_benign | 0.0844 | benign | -0.569 | Destabilizing | 0.002 | N | 0.265 | neutral | N | 0.504893429 | None | None | I |
| I/N | 0.2946 | likely_benign | 0.2729 | benign | -0.382 | Destabilizing | 0.295 | N | 0.578 | neutral | N | 0.478060147 | None | None | I |
| I/P | 0.4384 | ambiguous | 0.3946 | ambiguous | -0.754 | Destabilizing | 0.628 | D | 0.573 | neutral | None | None | None | None | I |
| I/Q | 0.3495 | ambiguous | 0.3318 | benign | -0.61 | Destabilizing | 0.356 | N | 0.581 | neutral | None | None | None | None | I |
| I/R | 0.1894 | likely_benign | 0.1728 | benign | 0.023 | Stabilizing | 0.214 | N | 0.578 | neutral | None | None | None | None | I |
| I/S | 0.2311 | likely_benign | 0.2095 | benign | -1.005 | Destabilizing | 0.029 | N | 0.526 | neutral | N | 0.518841374 | None | None | I |
| I/T | 0.0997 | likely_benign | 0.0898 | benign | -0.938 | Destabilizing | 0.001 | N | 0.336 | neutral | N | 0.504199996 | None | None | I |
| I/V | 0.0671 | likely_benign | 0.0649 | benign | -0.754 | Destabilizing | None | N | 0.206 | neutral | N | 0.442535461 | None | None | I |
| I/W | 0.6737 | likely_pathogenic | 0.6197 | pathogenic | -0.843 | Destabilizing | 0.864 | D | 0.599 | neutral | None | None | None | None | I |
| I/Y | 0.463 | ambiguous | 0.4164 | ambiguous | -0.618 | Destabilizing | 0.356 | N | 0.562 | neutral | None | None | None | None | I |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.